Inborn Errors of Purine Salvage and Catabolism

Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, dietary intake. They are subjected to catabolism, eventually forming uric in humans, while bases and nucleosides may be converted back through the salvage pathways. Inborn errors of pathway catabolism have been described by several researchers usually referred as rare diseases. Since compounds play a fundamental role, it is not surprising that their dysmetabolism accompanied devastating symptoms. Nevertheless, some these manifestations unexpected so far, no explanation therapy. Herein, we describe known inborn metabolism, highlighting unexplained pathological aspects. Our intent offer new points view on this topic suggest diagnostic tools possibly indicate clinicians metabolism very diseases after all.